A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954727



Internal ID9716940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7902936..7903283hg38UCSC Ensembl
Outerchr1:7962996..7963343hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743361
Supporting Variants
SamplesSSM026
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6954727
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer